R255C (p.Arg255Cys) variant of CASK (O14936)
R255C (p.Arg255Cys) in CASK (O14936) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of not provided; Syndromic X-linked intellectual disability Najm type. The available variant effect predictions contribute to a CATVariant prioritization score of 0.50 / 1. The record also includes structural context.
R255C (p.Arg255Cys) variant details
- p.Arg255Cys
- rs1064794937
- ClinGen CA16621405
- ClinVar RCV000485733
- Ensembl rs1064794937
- Pathogenic
- not provided; Syndromic X-linked intellectual disability Najm type
- Missense
- Variant Prioritization Score for Impact Estimate 0.504
- AlphaMissense 0.94
- MetaLR 0.50
- MetaSVM -0.03
- PolyPhen-2 1.00
- SIFT 0.15
- EVE 0.38
- ClinVar: Pathogenic (not provided; Syndromic X-linked intellectual disability Najm ty)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available